Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters.
Bröer, Stefan
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. [electronic resource] - The Journal of clinical investigation Dec 2008 - 3881-92 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-9738
10.1172/JCI36625 doi
Alleles
Amino Acid Transport Disorders, Inborn--genetics
Amino Acid Transport Systems, Neutral--genetics
Family
Female
Glycine Plasma Membrane Transport Proteins--genetics
Humans
Male
Mutation
Pedigree
Penetrance
Iminoglycinuria and hyperglycinuria are discrete human phenotypes resulting from complex mutations in proline and glycine transporters. [electronic resource] - The Journal of clinical investigation Dec 2008 - 3881-92 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
0021-9738
10.1172/JCI36625 doi
Alleles
Amino Acid Transport Disorders, Inborn--genetics
Amino Acid Transport Systems, Neutral--genetics
Family
Female
Glycine Plasma Membrane Transport Proteins--genetics
Humans
Male
Mutation
Pedigree
Penetrance